NT5C2

Summary

NT5C2 (5’-nucleotidase, cytosolic II, HGNC:8022) is a protein-coding gene on chromosome 10q24.32-q24.33, encoding Cytosolic purine 5’-nucleotidase (P49902). Broad specificity cytosolic 5’-nucleotidase that catalyzes the dephosphorylation of 6-hydroxypurine nucleoside 5’-monophosphates. In precision oncology, NT5C2 R367Q is associated with resistance to Mercaptopurine + Thioguanine in Childhood Acute Lymphocytic Leukemia (CIViC Level C); 12 further curated variant–drug associations are listed below.

This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5’-monophosphate and other purine nucleotides.

Source: NCBI Gene 22978 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex hereditary spastic paraplegia (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 97 (top 1% of genes corpus-wide)
• Clinical variants (ClinVar): 269 total — 17 pathogenic, 9 likely-pathogenic
• GTEx eGene: eQTL in 34 tissues, sQTL in 37 (q < 0.05)
• Phenotypes (HPO): 33
• Precision-oncology evidence (CIViC): 13 curated variant–drug associations
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.13 (unconstrained)
• MANE Select transcript: NM_001351169

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8022
Approved symbol	NT5C2
Name	5’-nucleotidase, cytosolic II
Location	10q24.32-q24.33
Locus type	gene with protein product
Status	Approved
Aliases	PNT5, GMP, cN-II, SPG65
Ensembl gene	ENSG00000076685
Ensembl biotype	protein_coding
OMIM	600417
Entrez	22978

Gene structure

Transcript identifiers

Ensembl transcripts: 99 — 52 protein_coding, 40 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined, 3 retained_intron

MANE Select: ENST00000404739

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 1, TSL 3: 7, TSL 4: 1, TSL 5: 3

ENST00000404739, ENST00000343289, ENST00000369857, ENST00000421281, ENST00000452156, ENST00000458345, ENST00000461461, ENST00000467380, ENST00000469228, ENST00000470228, ENST00000470299, ENST00000481549, ENST00000487810, ENST00000552185, ENST00000674696, ENST00000674728, ENST00000674860, ENST00000675020, ENST00000675040, ENST00000675164, ENST00000675326, ENST00000675436, ENST00000675645, ENST00000675811, ENST00000675985, ENST00000676428, ENST00000676449, ENST00000874297, ENST00000874298, ENST00000874299, ENST00000874300, ENST00000874301, ENST00000874302, ENST00000874303, ENST00000874304, ENST00000874305, ENST00000874306, ENST00000874307, ENST00000874308, ENST00000874309, ENST00000874310, ENST00000874311, ENST00000874312, ENST00000874313, ENST00000874314, ENST00000874315, ENST00000920535, ENST00000920536, ENST00000920537, ENST00000920538, ENST00000920539, ENST00000920540, ENST00000920541, ENST00000920542, ENST00000920543, ENST00000920544, ENST00000920545, ENST00000964133, ENST00000964134, ENST00000964135, ENST00000964136, ENST00000964137, ENST00000979161, ENST00000979162, ENST00000979163, ENST00000979164, ENST00000979165, ENST00000979166, ENST00001025446, ENST00001025447, ENST00001025448, ENST00001025449, ENST00001025450, ENST00001025451, ENST00001025452, ENST00001025453, ENST00001025454, ENST00001025455, ENST00001025456, ENST00001025457, ENST00001025458, ENST00001025459, ENST00001025460, ENST00001025461, ENST00001025462, ENST00001090127, ENST00001090128, ENST00001090129, ENST00001090130, ENST00001090131, ENST00001090132, ENST00001090133, ENST00001090135, ENST00001090136, ENST00001090137, ENST00001098402, ENST00001110823, ENST00001110824, ENST00001140873

RefSeq mRNA: 31 — MANE Select: NM_001351169 NM_001134373, NM_001351169, NM_001351170, NM_001351171, NM_001351172, NM_001351173, NM_001351174, NM_001351175, NM_001351176, NM_001351177, NM_001351178, NM_001351179, NM_001351180, NM_001351181, NM_001351182, NM_001351183, NM_001351184, NM_001351185, NM_001351186, NM_001351187, NM_001351188, NM_001351189, NM_001351190, NM_001351191, NM_001351192, NM_001351193, NM_001351194, NM_001351195, NM_001351196, NM_001351197, NM_012229

CCDS: CCDS7544, CCDS91339, CCDS91340

Canonical transcript exons

ENST00000404739 — 19 exons

Exon	Start	End
ENSE00001658312	103193236	103193272
ENSE00001945495	103088038	103089908
ENSE00003470626	103091564	103091615
ENSE00003472845	103090611	103090787
ENSE00003474155	103101045	103101102
ENSE00003479528	103099926	103100019
ENSE00003480950	103093972	103094038
ENSE00003486547	103139406	103139479
ENSE00003524653	103105706	103105801
ENSE00003533796	103101235	103101326
ENSE00003540965	103106589	103106706
ENSE00003557470	103174858	103174982
ENSE00003576701	103095939	103095980
ENSE00003602669	103090936	103090996
ENSE00003605538	103094348	103094455
ENSE00003633057	103093139	103093309
ENSE00003693615	103098931	103098984
ENSE00003790804	103097291	103097374
ENSE00003901306	103181185	103181328

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 98.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.5907 / max 540.0383, expressed in 1808 samples.

Highest expression (Bgee): parotid gland, buccal mucosa cell, oral cavity, amniotic fluid, esophagus squamous epithelium.

Genetic regulation across tissues (GTEx eQTL / sQTL)

NT5C2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 34 tissues and its splicing (sQTL) in 37 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 71 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	sqtl	1.6e-42	-1.45	10:103092132:T:C
Esophagus Mucosa	sqtl	2.2e-38	-0.54	10:103111604:A:G
Thyroid	sqtl	1.9e-35	-1.39	10:103096405:G:A
Skin Sun Exposed Lower leg	sqtl	1.2e-30	-1.24	10:103007134:C:T
Testis	sqtl	2.1e-29	-0.82	10:103193790:T:C
Muscle Skeletal	sqtl	1.3e-28	-1.12	10:103107929:C:T
Whole Blood	sqtl	3.2e-28	-1.06	10:103104857:C:G
Artery Tibial	sqtl	6.6e-28	-1.36	10:103104857:C:G
Artery Aorta	sqtl	1.3e-26	-1.38	10:103086421:T:C
Adipose Subcutaneous	sqtl	1.1e-25	-1.16	10:103104857:C:G
Lung	sqtl	1.5e-22	-0.53	10:103090875:G:A
Testis	eqtl	6.7e-21	+0.43	10:102938024:C:T
Adipose Visceral Omentum	sqtl	2.3e-20	-1.15	10:103154183:T:C
Cells EBV-transformed lymphocytes	sqtl	2.8e-20	-1.46	10:103007134:C:T
Nerve Tibial	sqtl	1.3e-19	-1.12	10:103146454:T:C
Adipose Visceral Omentum	eqtl	1.3e-18	+0.41	10:103135811:G:T
Skin Not Sun Exposed Suprapubic	sqtl	3.3e-18	-1.04	10:103192742:C:T
Colon Sigmoid	sqtl	4.2e-18	-1.32	10:103096405:G:A
Esophagus Muscularis	sqtl	1.6e-17	-1.23	10:103086421:T:C
Colon Transverse	sqtl	1.9e-17	-1.17	10:103088673:C:T

FANTOM5 promoters

9 alternative TSS:

Promoter ID	TPM avg	Samples expressed
111217	27.9565	1808
111210	0.4349	163
111220	0.4144	173
111215	0.2793	162
111207	0.1751	61
111214	0.1704	106
111213	0.0766	28
111211	0.0760	24
111212	0.0075	1

Top tissues by expression

showing 100 of 295 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	98.74	gold quality
buccal mucosa cell	CL:0002336	98.17	gold quality
oral cavity	UBERON:0000167	98.07	gold quality
amniotic fluid	UBERON:0000173	97.68	gold quality
esophagus squamous epithelium	UBERON:0006920	97.59	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.47	gold quality
cervix squamous epithelium	UBERON:0006922	97.25	gold quality
trabecular bone tissue	UBERON:0002483	97.21	gold quality
pharyngeal mucosa	UBERON:0000355	97.09	gold quality
epithelium of esophagus	UBERON:0001976	97.05	gold quality
lower esophagus mucosa	UBERON:0035834	96.80	gold quality
right lobe of thyroid gland	UBERON:0001119	96.71	gold quality
thyroid gland	UBERON:0002046	96.57	gold quality
palpebral conjunctiva	UBERON:0001812	96.53	gold quality
left lobe of thyroid gland	UBERON:0001120	96.52	gold quality
gluteal muscle	UBERON:0002000	96.38	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.36	gold quality
saliva-secreting gland	UBERON:0001044	96.30	gold quality
esophagus mucosa	UBERON:0002469	96.29	gold quality
cortical plate	UBERON:0005343	96.23	gold quality
monocyte	CL:0000576	96.20	gold quality
biceps brachii	UBERON:0001507	96.10	gold quality
squamous epithelium	UBERON:0006914	96.08	gold quality
blood	UBERON:0000178	96.05	gold quality
mononuclear cell	CL:0000842	95.96	gold quality
ganglionic eminence	UBERON:0004023	95.91	gold quality
minor salivary gland	UBERON:0001830	95.90	gold quality
mouth mucosa	UBERON:0003729	95.86	gold quality
leukocyte	CL:0000738	95.77	gold quality
superior surface of tongue	UBERON:0007371	95.70	gold quality
body of tongue	UBERON:0011876	95.60	gold quality
lateral globus pallidus	UBERON:0002476	95.58	gold quality
diaphragm	UBERON:0001103	95.53	gold quality
tonsil	UBERON:0002372	95.49	gold quality
corpus callosum	UBERON:0002336	95.46	gold quality
seminal vesicle	UBERON:0000998	95.45	gold quality
bone marrow cell	CL:0002092	95.44	gold quality
ventricular zone	UBERON:0003053	95.34	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.32	gold quality
adrenal tissue	UBERON:0018303	95.29	gold quality
colonic epithelium	UBERON:0000397	95.28	gold quality
bone marrow	UBERON:0002371	95.28	gold quality
tongue	UBERON:0001723	95.27	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.20	gold quality
gingiva	UBERON:0001828	94.98	gold quality
colonic mucosa	UBERON:0000317	94.93	gold quality
nasal cavity mucosa	UBERON:0001826	94.90	gold quality
bronchial epithelial cell	CL:0002328	94.87	gold quality
esophagus	UBERON:0001043	94.78	gold quality
substantia nigra pars compacta	UBERON:0001965	94.66	gold quality
calcaneal tendon	UBERON:0003701	94.61	gold quality
gall bladder	UBERON:0002110	94.55	gold quality
subthalamic nucleus	UBERON:0001906	94.52	gold quality
pigmented layer of retina	UBERON:0001782	94.48	gold quality
gingival epithelium	UBERON:0001949	94.39	gold quality
rectum	UBERON:0001052	94.35	gold quality
urinary bladder	UBERON:0001255	94.28	gold quality
vagina	UBERON:0000996	94.27	gold quality
endometrium epithelium	UBERON:0004811	94.17	gold quality
muscle of leg	UBERON:0001383	94.16	gold quality
descending thoracic aorta	UBERON:0002345	94.13	gold quality
embryo	UBERON:0000922	94.11	gold quality
vermiform appendix	UBERON:0001154	94.10	gold quality
popliteal artery	UBERON:0002250	94.10	gold quality
tibial artery	UBERON:0007610	94.08	gold quality
aorta	UBERON:0000947	94.06	gold quality
ascending aorta	UBERON:0001496	94.03	gold quality
thoracic aorta	UBERON:0001515	94.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.03	gold quality
gastrocnemius	UBERON:0001388	93.99	gold quality
urethra	UBERON:0000057	93.97	gold quality
trachea	UBERON:0003126	93.81	gold quality
right lung	UBERON:0002167	93.75	gold quality
epithelium of nasopharynx	UBERON:0001951	93.70	gold quality
corpus epididymis	UBERON:0004359	93.69	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.68	gold quality
left ovary	UBERON:0002119	93.63	gold quality
uterine cervix	UBERON:0000002	93.60	gold quality
nasal cavity epithelium	UBERON:0005384	93.59	gold quality
right uterine tube	UBERON:0001302	93.57	gold quality
mucosa of transverse colon	UBERON:0004991	93.51	gold quality
adult organism	UBERON:0007023	93.51	gold quality
caecum	UBERON:0001153	93.50	gold quality
left coronary artery	UBERON:0001626	93.49	gold quality
ectocervix	UBERON:0012249	93.49	gold quality
cartilage tissue	UBERON:0002418	93.48	gold quality
muscle organ	UBERON:0001630	93.41	gold quality
bronchus	UBERON:0002185	93.40	gold quality
islet of Langerhans	UBERON:0000006	93.38	gold quality
renal medulla	UBERON:0000362	93.35	gold quality
coronary artery	UBERON:0001621	93.35	gold quality
right coronary artery	UBERON:0001625	93.35	gold quality
epithelium of bronchus	UBERON:0002031	93.34	gold quality
jejunum	UBERON:0002115	93.33	gold quality
inferior vagus X ganglion	UBERON:0005363	93.26	gold quality
endometrium	UBERON:0001295	93.17	gold quality
pituitary gland	UBERON:0000007	93.12	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.12	gold quality
superior vestibular nucleus	UBERON:0007227	93.12	gold quality
skeletal muscle tissue	UBERON:0001134	93.11	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.25

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Olfactory bulb	tissue	64.9
Cerebral cortex	tissue	62.8	low
Occipital cortex	tissue	62.8
Somatosensory cortex	tissue	60.9
Cerebellum	tissue	57.7	low
Hippocampal formation	tissue	57.4
Entorhinal cortex	tissue	57.4
Temporal cortex	tissue	56.3
Spinal cord	tissue	56.1
Periaqueductal gray	tissue	56.0
Superior colliculi	tissue	55.9
Putamen	tissue	55.4
Retrosplenial and cingulate cortex	tissue	54.7
Substantia nigra	tissue	54.1
Insular cortex	tissue	54.1
Retrosplenial cortex	tissue	53.7
Motor cortex	tissue	53.4
Hypothalamus	tissue	53.0
Midbrain	tissue	52.0
Prefrontal cortex	tissue	51.7
Thalamus	tissue	51.6
Septum	tissue	51.2
Basal ganglia	tissue	50.6	low
Ventral forebrain	tissue	49.8
Pons	tissue	49.4
Medulla oblongata	tissue	49.0
Amygdala	tissue	48.2
Retina	tissue	43.8
Choroid plexus	tissue	41.5
Corpus callosum	tissue	40.9
Salivary gland	tissue	40.0	low
Thyroid gland	tissue	38.0	low
Vagina	tissue	32.7	low
Esophagus	tissue	32.5	low
Urinary bladder	tissue	31.1	medium
Skeletal muscle	tissue	29.5	low
Bone marrow	tissue	28.0	medium
Thymus	tissue	26.6
Colon	tissue	25.6	medium
Pituitary gland	tissue	24.4
Ovary	tissue	23.7	medium
Tonsil	tissue	23.0	low
Prostate	tissue	22.7	medium
Locus coeruleus	tissue	21.8
Kidney	tissue	21.0	low
Parathyroid gland	tissue	20.4	low
Testis	tissue	20.3	medium
Caudate putamen	tissue	19.4
Lung	tissue	18.9	medium
Cervix	tissue	18.5	not detected
Appendix	tissue	17.9	low
Adipose tissue	tissue	17.8	medium
Seminal vesicle	tissue	17.3	not detected
Lymph node	tissue	17.0	low
Frontal cortex	tissue	17.0
Tongue	tissue	16.9
Placenta	tissue	16.8	low
Nucleus accumbens	tissue	16.5
Epididymis	tissue	16.3	low
Stomach 1	tissue	16.0	medium

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Dorsal spinal cord (56.1), Ventral spinal cord (50.5), Ventral hippocampus (48.0), Subiculum (47.5), Dorsal hippocampus (45.8).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting NT5C2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 64 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-885-5P	99.59	68.59	879
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-409-3P	99.50	66.33	1192

Functional genomics

gnomAD constraint: pLI 1.04e-07, LOEUF 1.13, missense Z 2.46 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000404739 — one region, missense o/e 0.69.

Literature-anchored findings (GeneRIF, showing 38)

• cN-II has a role in protecting against progression of non-small cell lung cancer (PMID:15923058)
• the expression level of cN-II mRNA might be a prognostic factor of high-risk MDS. (PMID:17350683)
• Data describe the crystal structure of human cytosolic 5’-nucleotidase II and discuss its allosteric regulation and substrate recognition. (PMID:17405878)
• In leukoblasts from 82 patients with acute myeloid leukemia, various extent and frequency of differential allelic expression in the CDA, DCK, NT5C2, NT5C3, and TP53 genes was observed. (PMID:18775979)
• The DCK/cN-II ratio was again proportional to ara-CTP production and to ara-C sensitivity. (PMID:19428333)
• seven high-resolution structures of human cN-II, including a ligand-free form and complexes with various substrates and effectors, were presented. (PMID:21396942)
• Polymorphisms in the CYP17A1 and NT5C2 genes influence a reduction in both visceral and subcutaneous fat mass in Japanese women. (PMID:22071413)
• analysis of Drosophila and human 7-methyl GMP-specific nucleotidases (PMID:23223233)
• These results suggest that mutations in NT5C2 are associated with the outgrowth of drug-resistant clones in acute lymphoblastic leukemia (PMID:23377183)
• results highlight the prominent role of relapse-specific mutations in NT5C2 as a mechanism of resistance to 6-Mercaptopurine and a genetic driver of relapse in acute lymphoblastic leukemia (PMID:23377281)
• Four novel body mass index-associated loci near the KCNQ1(rs2237892), ALDH2/MYL2 (rs671, rs12229654), ITIH4 (rs2535633) and NT5C2 (rs11191580) genes are identified in East Asian-ancestry populations. (PMID:24861553)
• cN-II co-immunoprecipitated both with wild type Ipaf and its LRR domain after transfection with corresponding expression vectors, but not with Ipaf lacking the LRR domain. (PMID:25811392)
• Data indicate that type II cytosolic 5’-nucleotidase (cN-II) exerts a role in nucleotide and drug metabolism and regulating cell survival. (PMID:25857773)
• Leukemia Relapse-Associated Mutation of NT5C2 Gene is Rare in de Novo Acute Leukemias and Solid Tumors. (PMID:26259531)
• this study implicates altered neural expression of BORCS7, AS3MT, and NT5C2 in susceptibility to schizophrenia arising from genetic variation at the chromosome 10q24 locus (PMID:27004590)
• Using data from a large-scale genome-wide association study of schizophrenia, study identified several potentially functional variants relating to miRNA function with our top finding being a schizophrenia protective allele that disrupts miR-206s binding to NT5C2 thus leading to increased expression of this gene. (PMID:27424800)
• acute lymphoblastic leukemia-specific mutations affect regulation of cN-II (PMID:27756303)
• NT5C2 variant rs11191580 conferred susceptibility to schizophrenia and affected the clinical symptoms of schizophrenia in a South Chinese Han population. (PMID:27901213)
• The aberrantly spliced NT5C2 showed substantial reduction in expression level in the in-vitro study, indicating marked instability of the mutant NT5C2 protein. (PMID:28327087)
• NT5C2 mutations seem to have a broad clinical spectrum and should be sought in patients manifesting either as uncomplicated or complicated spastic paraplegia (PMID:28884889)
• intersubunit interaction forms structural basis of hyperactive NT5C2 in drug-resistant leukemia in which heterozygous NT5C2 mutation gave rise to hetero-tetramer mutant and WT proteins. (PMID:29535428)
• Results uncover dynamic mechanisms of enzyme regulation targeted by chemotherapy resistance-driving NT5C2 mutations in relapsed acute lymphoblastic leukemia. (PMID:29990496)
• Targeted sequencing of NT5C2 did not identify any missense variants associated with rs72846714 or wmEry-TGN/wmDNA-TG. (PMID:30201983)
• NT5C2 deletion in mice protects against high-fat diet-induced weight gain, adiposity, insulin resistance and associated hyperglycemia (PMID:30803894)
• We provide an extensive neurobiological characterization of the psychiatric risk gene NT5C2, describing its previously unknown role in the regulation of AMPK signaling and protein translation in neural stem cells and its association with Drosophila melanogaster motility behavior (PMID:31097295)
• NT5C2 mutations alter thiopurine metabolism and cellular disposition (PMID:31358663)
• Subclonal NT5C2 mutations are associated with poor outcomes after relapse of pediatric acute lymphoblastic leukemia. (PMID:31971569)
• NT5C2 Gene Polymorphisms and the Risk of Coronary Heart Disease. (PMID:32541135)
• Association between NT5C2 rs11191580 and autism spectrum disorder in the Chinese Han population. (PMID:32590138)
• Enhanced migration of breast and lung cancer cells deficient for cN-II and CD73 via COX-2/PGE2/AKT axis regulation. (PMID:32970317)
• NT5C2 methylation regulatory interplay between DNMT1 and insulin receptor in type 2 diabetes. (PMID:32999320)
• Effects of NT5C2 Germline Variants on 6-Mecaptopurine Metabolism in Children With Acute Lymphoblastic Leukemia. (PMID:33124053)
• CD73 and cN-II regulate the cellular response to chemotherapeutic and hypoxic stress in lung adenocarcinoma cells. (PMID:33434633)
• Cytosolic 5’-Nucleotidase II Silencing in Lung Tumor Cells Regulates Metabolism through Activation of the p53/AMPK Signaling Pathway. (PMID:34209768)
• NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence thiopurine sensitivity in acute lymphoblastic leukaemia cells. (PMID:34636169)
• Associations between Gene-Gene Interaction and Overweight/Obesity of 12-Month-Old Chinese Infants. (PMID:35295960)
• Silencing of circ-NT5C2 retards the progression of IL-1beta-induced osteoarthritis in an in vitro cell model by targeting the miR-142-5p/NAMPT axis. (PMID:36540014)
• Schizophrenia risk proteins ZNF804A and NT5C2 interact in cortical neurons. (PMID:38279611)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Nt5c2	ENSMUSG00000025041
rattus_norvegicus	Nt5c2	ENSRNOG00000020179
drosophila_melanogaster	Nt5c	FBGN0033426
drosophila_melanogaster	Nt5b	FBGN0052549
caenorhabditis_elegans		WBGENE00022201

Paralogs (4): NT5DC3 (ENSG00000111696), NT5DC4 (ENSG00000144130), NT5DC2 (ENSG00000168268), NT5DC1 (ENSG00000178425)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2178563) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 4 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal liver morphology	1
decreased startle reflex	1
abnormal kidney morphology	1
abnormal bone marrow cell physiology	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pongo abelii	Q5RA22	100.0%	Diamond
Bos taurus	O46411	99.6%	Diamond
Xenopus tropicalis	Q5EBF1	96.9%	Diamond
Xenopus laevis	Q6DKB0	96.9%	Diamond
Gallus gallus	Q5ZIZ4	95.6%	Diamond
Dictyostelium discoideum	Q54XC1	43.1%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
BORCS7-ASMT	ncRNA	100528007
CNNM2	protein-coding	54805
AS3MT	protein-coding	57412
BORCS7	protein-coding	119032
RPEL1	protein-coding	729020
INA	protein-coding	9118
PCGF6	protein-coding	84108

Protein

Protein identifiers

Cytosolic purine 5’-nucleotidase — P49902 (reviewed: P49902)

Alternative names: Cytosolic 5’-nucleotidase II, Cytosolic IMP/GMP-specific 5’-nucleotidase, Cytosolic nucleoside phosphotransferase 5’N, High Km 5’-nucleotidase

All UniProt accessions (12): A0A384MED8, A0A6Q8PEZ2, A0A6Q8PF50, A0A6Q8PFH2, A0A6Q8PG36, A0A6Q8PHB5, A0A6Q8PHP0, P49902, H0YHR8, Q5JUV6, S4R3A6, S4R3E7

UniProt curated annotations — full annotation on UniProt →

Function. Broad specificity cytosolic 5’-nucleotidase that catalyzes the dephosphorylation of 6-hydroxypurine nucleoside 5’-monophosphates. In addition, possesses a phosphotransferase activity by which it can transfer a phosphate from a donor nucleoside monophosphate to an acceptor nucleoside, preferably inosine, deoxyinosine and guanosine. Has the highest activities for IMP and GMP followed by dIMP, dGMP and XMP. Could also catalyze the transfer of phosphates from pyrimidine monophosphates but with lower efficiency. Through these activities regulates the purine nucleoside/nucleotide pools within the cell.

Subunit / interactions. Homotetramer.

Subcellular location. Cytoplasm. Cytosol.

Tissue specificity. Widely expressed.

Disease relevance. Spastic paraplegia 45, autosomal recessive (SPG45) [MIM:613162] A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG45 patients manifest intellectual disability, contractures and learning disability. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Allosterically activated by various compounds including ATP, 2,3-BPG/2,3-Bisphosphoglyceric acid and Ap4A/P1,P4-bis(5’-adenosyl) tetraphosphate. Binding of an allosteric activator is a prerequisiste to magnesium and substrate binding. Inhibited by inorganic phosphate.

Cofactor. Binds 1 Mg(2+) ion per subunit.

Similarity. Belongs to the 5’(3’)-deoxyribonucleotidase family.

Isoforms (2)

UniProt ID	Names	Canonical?
P49902-1	1	yes
P49902-2	2

RefSeq proteins (31): NP_001127845, NP_001338098, NP_001338099, NP_001338100, NP_001338101, NP_001338102, NP_001338103, NP_001338104, NP_001338105, NP_001338106, NP_001338107, NP_001338108, NP_001338109, NP_001338110, NP_001338111, NP_001338112, NP_001338113, NP_001338114, NP_001338115, NP_001338116, NP_001338117, NP_001338118, NP_001338119, NP_001338120, NP_001338121, NP_001338122, NP_001338123, NP_001338124, NP_001338125, NP_001338126, NP_036361 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008380	HAD-SF_hydro_IG_5-nucl	Family
IPR016695	Pur_nucleotidase	Family
IPR023214	HAD_sf	Homologous_superfamily
IPR036412	HAD-like_sf	Homologous_superfamily

Pfam: PF05761

Enzyme classification (BRENDA)

• EC 3.1.3.5 — 5’-nucleotidase (BRENDA: 107 organisms, 375 substrates, 402 inhibitors, 307 Km, 66 kcat entries)

Substrate kinetics (BRENDA)

39 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
5’-AMP	0.0003–23	73
5’-IMP	0.0071–18	49
5’-GMP	0.0064–7.2	29
5’-UMP	0.014–56	27
5’-CMP	0.002–100	19
INOSINE	0.25–10.2	13
5’-DAMP	0.012–35	9
AMP	0.0091–1.49	8
5’-DGMP	0.044–142	7
4-NITROPHENYL PHOSPHATE	0.224–21.78	6
5’-DCMP	0.023–0.75	6
DCMP	0.012–0.193	6
5’-TMP	0.008–0.73	5
5’-XMP	0.065–2.9	5
5’-DTMP	0.008–22	4

Catalyzed reactions (Rhea)

• a ribonucleoside 5’-phosphate + H2O = a ribonucleoside + phosphate (RHEA:12484)
• a 2’-deoxyribonucleoside + a ribonucleoside 5’-phosphate = a ribonucleoside + a 2’-deoxyribonucleoside 5’-phosphate (RHEA:19961)
• GMP + H2O = guanosine + phosphate (RHEA:27714)
• IMP + H2O = inosine + phosphate (RHEA:27718)
• XMP + H2O = xanthosine + phosphate (RHEA:28530)
• dGMP + H2O = 2’-deoxyguanosine + phosphate (RHEA:29379)
• dIMP + H2O = 2’-deoxyinosine + phosphate (RHEA:29383)
• dIMP + inosine = 2’-deoxyinosine + IMP (RHEA:69572)
• dGMP + inosine = 2’-deoxyguanosine + IMP (RHEA:69580)
• inosine + GMP = guanosine + IMP (RHEA:69584)
• inosine + UMP = uridine + IMP (RHEA:69588)
• inosine + CMP = cytidine + IMP (RHEA:69592)

UniProt features (115 total): binding site 38, helix 33, strand 22, turn 7, modified residue 4, sequence variant 3, region of interest 2, active site 2, chain 1, compositionally biased region 1, splice variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

showing 30 of 43 structures by resolution:

PDB	Title	Method	Resolution (Å)
2JC9	Crystal structure of Human Cytosolic 5’-Nucleotidase II in complex with adenosine	X-RAY DIFFRACTION	1.5
5L50	Crystal structure of enzyme in purine metabolism	X-RAY DIFFRACTION	1.64
5OPM	Crystal structure of D52N/R238W cN-II mutant bound to dATP and free phosphate	X-RAY DIFFRACTION	1.68
5OPP	Crystal structure of S408R cN-II mutant	X-RAY DIFFRACTION	1.7
5OPK	Crystal structure of D52N/R367Q cN-II mutant bound to dATP and free phosphate	X-RAY DIFFRACTION	1.74
5OPN	Crystal structure of R39Q cN-II mutant	X-RAY DIFFRACTION	1.77
5K7Y	Crystal structure of enzyme in purine metabolism	X-RAY DIFFRACTION	1.79
5OPL	Crystal structure of K25E cN-II mutant	X-RAY DIFFRACTION	1.8
6DDY	Crystal structure of the double mutant (D52N/K359Q) of NT5C2-537X in the active state …	X-RAY DIFFRACTION	1.8
5L4Z	Crystal structure of enzyme in purine metabolism	X-RAY DIFFRACTION	1.84
2XCW	Crystal structure of the D52N variant of cytosolic 5’-nucleotidase II in complex with …	X-RAY DIFFRACTION	1.9
6DDZ	Crystal structure of the double mutant (D52N/R238W) of NT5C2-537X in the active state …	X-RAY DIFFRACTION	1.97
6DD3	Crystal structure of the double mutant (D52N/D407A) of NT5C2-537X in the active state	X-RAY DIFFRACTION	1.98
2XJC	Crystal structure of the D52N variant of cytosolic 5’-nucleotidase II in complex with …	X-RAY DIFFRACTION	2
2XJD	Crystal structure of the D52N variant of cytosolic 5’-nucleotidase II in complex with …	X-RAY DIFFRACTION	2
5OPO	Crystal structure of R238G cN-II mutant	X-RAY DIFFRACTION	2
6DE0	Crystal structure of the single mutant (D52N) of NT5C2-Q523X in the active state	X-RAY DIFFRACTION	2.05
2XJF	Crystal structure of the D52N variant of cytosolic 5’-nucleotidase II with a covalently …	X-RAY DIFFRACTION	2.1
6DE2	Crystal structure of the double mutant (D52N/L375F) of the full-length NT5C2 in the …	X-RAY DIFFRACTION	2.1
2JCM	Crystal structure of Human Cytosolic 5’-Nucleotidase II in complex with beryllium …	X-RAY DIFFRACTION	2.15
6DE1	Crystal structure of the single mutant (D52N) of the full-length NT5C2 in the active state	X-RAY DIFFRACTION	2.15
2J2C	Crystal structure of Human Cytosolic 5’-Nucleotidase II (NT5C2, cN-II)	X-RAY DIFFRACTION	2.2
6FIW	Human cytosolic 5’-nucleotidase II co-crystallized with 10mM Sodium …	X-RAY DIFFRACTION	2.2
6DDL	Crystal structure of the single mutant (D52N) of NT5C2-Q523X in the basal state	X-RAY DIFFRACTION	2.26
2XCV	Crystal structure of the D52N variant of cytosolic 5’-nucleotidase II in complex with …	X-RAY DIFFRACTION	2.3
2XCX	Crystal structure of the apoform of the D52N variant of cytosolic 5’- nucleotidase II	X-RAY DIFFRACTION	2.3
2XJB	Crystal structure of the D52N variant of cytosolic 5’-nucleotidase II in complex with …	X-RAY DIFFRACTION	2.3
2XJE	Crystal structure of the D52N variant of cytosolic 5’-nucleotidase II in complex with …	X-RAY DIFFRACTION	2.3
6FIS	Human cytosolic 5’-nucleotidase II soaked with 10mM 7-Benzyloxymethyl-7H-adenine	X-RAY DIFFRACTION	2.3
6FXH	Human cytosolic 5’-nucleotidase II soaked with 10mM 3-Phenyl-N-(9H-purin-6-yl)benzamide	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P49902-F1	88.81	0.76

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Transferases, Hydrolases, Metabolic proteins, Predicted intracellular proteins, Plasma proteins, Cancer-related genes, Disease related genes, Potential drug targets, Human disease related genes

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2)

Position	Role
52	nucleophile
54	proton donor

Ligand- & substrate-binding residues (38)

Position	Role
54	IMP
54	Mg(2+)
144	(2R)-2,3-bisphosphoglycerate
144	ATP
144	dATP
154	adenosine
154	ATP
154	dATP
154	P(1),P(4)-bis(5’-adenosyl) tetraphosphate
202	GMP
202	IMP
206	GMP
206	IMP
215	GMP
215	IMP
249	GMP
249	IMP
250	GMP
250	IMP
251	IMP
292	GMP
292	IMP
351	Mg(2+)
362	(2R)-2,3-bisphosphoglycerate
362	P(1),P(4)-bis(5’-adenosyl) tetraphosphate
436	adenosine
453	adenosine
453	ATP
453	dATP
453	P(1),P(4)-bis(5’-adenosyl) tetraphosphate
456	ATP
456	dATP
457	(2R)-2,3-bisphosphoglycerate
457	P(1),P(4)-bis(5’-adenosyl) tetraphosphate
52	GMP
52	IMP
52	Mg(2+)
54	GMP

Post-translational modifications (4)

Type	Positions
Phosphoserine	418, 502, 511, 527

Mutagenesis-validated functional residues (1)

Position	Phenotype
52	loss of 5’ nucleotidase activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 curated (TAS) of 8; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

8 pathways:

ID	Pathway	Evidence
R-HSA-2161541	Abacavir metabolism	curated
R-HSA-74259	Purine catabolism	curated
R-HSA-9755088	Ribavirin ADME	curated
R-HSA-2161522	Abacavir ADME	—
R-HSA-9748784	Drug ADME	—
R-HSA-1430728	Metabolism	—
R-HSA-15869	Metabolism of nucleotides	—
R-HSA-8956319	Nucleotide catabolism	—

MSigDB gene sets: 268 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GSE45365_NK_CELL_VS_CD8A_DC_UP, JI_RESPONSE_TO_FSH_UP, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, HEIDENBLAD_AMPLICON_8Q24_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS

GO Biological Process (11): allantoin metabolic process (GO:0000255), IMP catabolic process (GO:0006204), GMP metabolic process (GO:0046037), IMP metabolic process (GO:0046040), dGMP metabolic process (GO:0046054), dGMP catabolic process (GO:0046055), adenosine metabolic process (GO:0046085), negative regulation of defense response to virus by host (GO:0050689), protein K48-linked ubiquitination (GO:0070936), nucleotide metabolic process (GO:0009117), purine ribonucleotide catabolic process (GO:0009154)

GO Molecular Function (11): ATP binding (GO:0005524), 5’-nucleotidase activity (GO:0008253), identical protein binding (GO:0042802), metal ion binding (GO:0046872), nucleoside phosphotransferase activity (GO:0050146), ubiquitin protein ligase activity (GO:0061630), nucleotide binding (GO:0000166), catalytic activity (GO:0003824), protein binding (GO:0005515), transferase activity (GO:0016740), hydrolase activity (GO:0016787)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

5 top-level categories:

Category	Pathways
Drug ADME	2
Abacavir ADME	1
Nucleotide catabolism	1
Metabolism	1
Metabolism of nucleotides	1

GO top-level categories

36 GO namespaces:

Category	Terms
purine ribonucleotide metabolic process	3
purine ribonucleoside monophosphate metabolic process	2
catalytic activity	2
cellular anatomical structure	2
metabolic process	1
purine ribonucleotide catabolic process	1
purine ribonucleoside monophosphate catabolic process	1
IMP metabolic process	1
purine deoxyribonucleotide metabolic process	1
purine deoxyribonucleoside monophosphate metabolic process	1
purine deoxyribonucleotide catabolic process	1
purine deoxyribonucleoside monophosphate catabolic process	1
dGMP metabolic process	1
purine ribonucleoside metabolic process	1
negative regulation of defense response to virus	1
regulation of defense response to virus by host	1
protein polyubiquitination	1
nucleoside phosphate metabolic process	1
purine nucleotide catabolic process	1
ribonucleotide catabolic process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
anion binding	1
nucleotidase activity	1
protein binding	1
cation binding	1
phosphotransferase activity, alcohol group as acceptor	1
nucleobase-containing compound kinase activity	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
binding	1
intracellular anatomical structure	1
cytoplasm	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 14 of 25 annotations. The rest are phylogenetic / computational / electronic (IEA).

14 experimentally-supported GO terms:

GO term	NS	Evidence
GMP metabolic process	BP	direct assay
IMP catabolic process	BP	direct assay
IMP metabolic process	BP	direct assay
allantoin metabolic process	BP	direct assay
dGMP metabolic process	BP	direct assay
negative regulation of defense response to virus by host	BP	direct assay
protein K48-linked ubiquitination	BP	direct assay
cytoplasm	CC	direct assay
cytosol	CC	direct assay
5’-nucleotidase activity	MF	direct assay
ATP binding	MF	direct assay
identical protein binding	MF	direct assay
nucleoside phosphotransferase activity	MF	direct assay
ubiquitin protein ligase activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 1,260 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NT5C2	CNNM2	Q9H8M5	716
NT5C2	NT5C	Q8TCD5	674
NT5C2	DCK	P27707	645
NT5C2	NT5C1A	Q9BXI3	637
NT5C2	NT5C3A	Q9H0P0	635
NT5C2	PRPS1	P09329	621
NT5C2	BORCS7	Q96B45	611
NT5C2	AS3MT	Q9HBK9	607
NT5C2	PRPS1L1	P21108	606
NT5C2	AMPD2	Q01433	596
NT5C2	NT5M	Q9NPB1	571
NT5C2	DCTD	P32321	570
NT5C2	WBP1L	Q9NX94	570
NT5C2	NT5C1B	Q96P26	536
NT5C2	ITIH3	Q06033	524

IntAct

Human interaction partners of NT5C2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

13 partners by confidence:

Partner	Interaction type	MIscore	Records
NME7	physical association	0.670	4
FXR2	physical association	0.620	3
MOB3B	physical association	0.620	3
NUDT18	physical association	0.620	3
SNX15	physical association	0.590	2
ATP5PO	physical association	0.560	3
FAA2	physical association	0.560	3
GLYCTK	physical association	0.560	3
MOB1B	physical association	0.560	3
MOB3C	physical association	0.560	3
SDCBP	physical association	0.560	3
NOC4L	physical association	0.370	1
PREX2	association	0.350	1

BioGRID (137 interactions; top human partners by supporting records): HSPBP1 (Affinity Capture-MS; 3 records), FXR2 (Two-hybrid; 2 records), MOB3B (Two-hybrid; 2 records), NME7 (Two-hybrid; 2 records), NUDT18 (Two-hybrid; 2 records), PARK2 (Affinity Capture-MS; 2 records), SNX15 (Affinity Capture-MS; 2 records), ADNP (Co-fractionation), ADSL (Co-fractionation), AGO2 (Affinity Capture-RNA), AGR2 (Proximity Label-MS), AHCYL1 (Co-fractionation), AMBRA1 (Proximity Label-MS), API5 (Co-fractionation), ARHGAP23 (Affinity Capture-MS)

Disease & clinical

Cancer significance

From CIViC — curated cancer-variant interpretation:

This gene, when mutated to be over-active, has been linked to chemotherapy resistance in relapsed T-cell Acute Lymphoblastic Leukemia.

Genetic variants

Variant evidence for NT5C2: 269 ClinVar records (26 pathogenic / likely pathogenic); 6 CIViC cancer variants; 3 PharmGKB clinical annotations; 97 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

269 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	17
Likely pathogenic	9
Uncertain significance	77
Likely benign	102
Benign	35

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 26 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
3706302	NM_001351169.2(NT5C2):c.115C>T (p.Arg39Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
100904	NM_001351169.2(NT5C2):c.85C>T (p.Arg29Ter)	Pathogenic	criteria provided, single submitter	2
100908	NM_001351169.2(NT5C2):c.175+1G>A	Pathogenic	criteria provided, single submitter	2
952332	NM_001351169.2(NT5C2):c.1371T>A (p.Tyr457Ter)	Pathogenic	criteria provided, single submitter	1
1685994	NM_001351169.2(NT5C2):c.1403T>C (p.Leu468Pro)	Pathogenic	criteria provided, single submitter	1
1705923	NM_001351169.2(NT5C2):c.629del (p.Tyr210fs)	Pathogenic	criteria provided, single submitter	1
2009302	NM_001351169.2(NT5C2):c.675T>G (p.Tyr225Ter)	Pathogenic	criteria provided, single submitter	1
2147372	NM_001351169.2(NT5C2):c.595C>T (p.Gln199Ter)	Pathogenic	criteria provided, single submitter	1
2413847	NM_001351169.2(NT5C2):c.1153_1154del (p.Lys385fs)	Pathogenic	criteria provided, single submitter	1
2729444	NM_001351169.2(NT5C2):c.226del (p.Arg76fs)	Pathogenic	criteria provided, single submitter	1
4699797	NM_001351169.2(NT5C2):c.516dup (p.Thr173fs)	Pathogenic	criteria provided, single submitter	1
3064786	NM_001351169.2(NT5C2):c.176-2A>G	Likely pathogenic	criteria provided, single submitter	2
432907	NM_001351169.2(NT5C2):c.503TAG[1] (p.Val169del)	Likely pathogenic	criteria provided, single submitter	1
579655	NM_001351169.2(NT5C2):c.1272+1G>C	Likely pathogenic	criteria provided, single submitter	1
1029182	NM_001351169.2(NT5C2):c.539+1G>T	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore NT5C2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 37 predictions of 2,024):

Position(s)	Effect	Δscore	Sites
10:103089910	acceptor_loss	1.0000
10:103090609–103090610	donor_loss	1.0000	5
10:103090788–103090789	acceptor_loss	1.0000	6
10:103090934	donor_loss	1.0000	2
10:103090997–103090998	acceptor_loss	1.0000	5
10:103091626–103091627	acceptor_gain	1.0000	2
10:103093970–103093971	donor_loss	1.0000	4
10:103094039–103094040	acceptor_loss	1.0000	6
10:103094041	acceptor_gain	1.0000
10:103094346–103094347	donor_loss	1.0000	5

AlphaMissense

2,218 missense substitutions predicted likely pathogenic (of 3,726 scored), across 450 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M53	9	0.965	0.999
M260	9	0.921	0.999
M430	9	0.909	0.996
D54	8	1.000	1.000
D351	8	1.000	1.000
D356	8	1.000	1.000
D52	8	0.999	1.000
D103	8	0.999	1.000
H352	8	0.999	1.000
H209	8	0.998	1.000
D459	8	0.998	0.999
H486	8	0.998	1.000
D113	8	0.997	1.000
D431	8	0.996	1.000
D407	8	0.995	0.999
F450	8	0.995	1.000
D200	8	0.994	0.998
F157	8	0.992	1.000
S251	8	0.992	0.999
H428	8	0.992	0.999

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	7.91e-05

Disease associations

OMIM: gene MIM:600417 | disease phenotypes: MIM:613162

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
complex hereditary spastic paraplegia	Definitive	Autosomal recessive
hereditary spastic paraplegia 45	Strong	Autosomal recessive	4

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

1 validity classifications:

Disease	Classification	Inheritance
complex hereditary spastic paraplegia	Definitive	AR

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (8 panels, 6 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

8 panels:

Panel	Rating
Hereditary spastic paraplegia	green
Hereditary spastic paraplegia, childhood onset	green
Hypotonic infant	green
Intellectual disability	green
Leukodystrophy, childhood onset	green
Paediatric disorders	green
Adult-onset neurological disorders	amber
Hereditary spastic paraplegia, adult onset	amber

Mondo (3): hereditary spastic paraplegia 45 (MONDO:0013165), neurodevelopmental disorder (MONDO:0700092), complex hereditary spastic paraplegia (MONDO:0015150)

Orphanet (1): Autosomal recessive spastic paraplegia type 45 (Orphanet:320396)

HPO phenotypes

33 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000486	Strabismus
HP:0000545	Myopia
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001258	Spastic paraplegia
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001347	Hyperreflexia
HP:0001371	Flexion contracture
HP:0001762	Talipes equinovarus
HP:0002059	Cerebral atrophy
HP:0002061	Lower limb spasticity
HP:0002064	Spastic gait
HP:0002079	Hypoplasia of the corpus callosum
HP:0003202	Skeletal muscle atrophy
HP:0003487	Babinski sign
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0005830	Flexion contracture of toe
HP:0006380	Knee flexion contracture
HP:0006466	Ankle flexion contracture
HP:0006989	Dysplastic corpus callosum
HP:0008936	Axial hypotonia
HP:0011448	Ankle clonus
HP:0011462	Young adult onset
HP:0011463	Childhood onset
HP:0012043	Pendular nystagmus
HP:0030051	Tip-toe gait
HP:0033725	Thin corpus callosum

GWAS associations

showing 30 of 97 associations:

Study	Trait	p-value
GCST004619_162	Reticulocyte fraction of red cells	3e-55
GCST006188_5	Systolic blood pressure (cigarette smoking interaction)	1e-45
GCST004612_151	High light scatter reticulocyte percentage of red cells	4e-42
GCST007269_314	Pulse pressure	6e-42
GCST004611_204	High light scatter reticulocyte count	1e-40
GCST90002387_125	Immature fraction of reticulocytes	8e-31
GCST006259_38	Systolic blood pressure	2e-27
GCST001227_3	Systolic blood pressure	7e-26
GCST011331_10	Body mass index and systole blood pressure (pairwise)	3e-24
GCST000395_3	Systolic blood pressure	7e-24
GCST007327_163	Smoking status (ever vs never smokers)	4e-22
GCST006021_42	Systolic blood pressure	3e-20
GCST009685_32	Hypertension	3e-20
GCST002539_77	Schizophrenia	6e-19
GCST006803_98	Schizophrenia	7e-18
GCST004776_38	Systolic blood pressure	1e-17
GCST006187_26	Diastolic blood pressure (cigarette smoking interaction)	1e-17
GCST001072_2	Blood pressure	4e-17
GCST004946_67	Schizophrenia	4e-17
GCST006009_7	Pulse pressure	5e-17
GCST004521_217	Autism spectrum disorder or schizophrenia	1e-16
GCST007703_145	Systolic blood pressure	1e-16
GCST005979_16	Systolic blood pressure	3e-16
GCST011330_4	Body mass index and coronary artery disease (pairwise)	9e-16
GCST001236_21	Blood pressure	1e-15
GCST007705_41	Pulse pressure	2e-15
GCST007703_65	Systolic blood pressure	3e-15
GCST004257_3	Systolic blood pressure (long-term average)	4e-15
GCST007703_64	Systolic blood pressure	7e-15
GCST011021_7	Intracranial aneurysm	2e-14

EFO canonical traits (from GWAS)

19 canonical traits:

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0006340	mean arterial pressure
EFO:0004340	body mass index
EFO:0007746	white matter lesion progression measurement
EFO:0004318	smoking behavior
EFO:0007986	reticulocyte count
EFO:0009188	Red cell distribution width
EFO:0004344	birth weight
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0006527	smoking status measurement
EFO:0009270	heel bone mineral density
EFO:0007876	insomnia measurement
EFO:0008328	chronotype measurement
EFO:0007820	cognitive behavioural therapy
EFO:0004346	neuroimaging measurement
EFO:0000195	metabolic syndrome
EFO:0004527	mean corpuscular hemoglobin

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3708197 (SINGLE PROTEIN)

Clinical evidence (CIViC)

Drug × variant × indication, from 14 curated evidence items; also 4 prognostic. CIViC evidence level: A (validated) → B (clinical) → C (case study) → D (preclinical) → E (inferential).

13 predictive associations by evidence level:

Variant	Therapy	Indication	Effect	Level	CIViC
NT5C2 R367Q	Mercaptopurine + Thioguanine	Childhood Acute Lymphocytic Leukemia	Resistance	CIViC C	EID7812 +1
NT5C2 D407A	Thioguanine + Mercaptopurine	T-cell Acute Lymphoblastic Leukemia	Resistance	CIViC D	EID632
NT5C2 D407A	Nelarabine + Arabinosylguanine	T-cell Acute Lymphoblastic Leukemia	Resistance	CIViC D	EID635
NT5C2 K359Q	Mercaptopurine + Thioguanine	T-cell Acute Lymphoblastic Leukemia	Resistance	CIViC D	EID631
NT5C2 K359Q	Arabinosylguanine + Nelarabine	T-cell Acute Lymphoblastic Leukemia	Resistance	CIViC D	EID636
NT5C2 R238W	Thioguanine + Mercaptopurine	Childhood Acute Lymphocytic Leukemia	Resistance	CIViC D	EID7813
NT5C2 R238W	Prednisolone + Cytarabine + Gemcitabine + Doxorubicin	Childhood Acute Lymphocytic Leukemia	Resistance	CIViC D	EID7816
NT5C2 R238W	Thioguanine + Mercaptopurine	B-lymphoblastic Leukemia/lymphoma	Resistance	CIViC D	EID8077
NT5C2 R367Q	Mercaptopurine + Thioguanine	T-cell Acute Lymphoblastic Leukemia	Resistance	CIViC D	EID630
NT5C2 R367Q	Nelarabine + Arabinosylguanine	T-cell Acute Lymphoblastic Leukemia	Resistance	CIViC D	EID633
NT5C2 R367Q	Cytarabine + Gemcitabine + Prednisolone + Doxorubicin	Childhood Acute Lymphocytic Leukemia	Resistance	CIViC D	EID7815
NT5C2 S445F	Thioguanine + Mercaptopurine	Childhood Acute Lymphocytic Leukemia	Resistance	CIViC D	EID7814
NT5C2 S445F	Cytarabine + Gemcitabine + Doxorubicin + Prednisolone	Childhood Acute Lymphocytic Leukemia	Resistance	CIViC D	EID7817

CIViC column: a representative evidence item (EID); +N = additional CIViC items supporting the same association.

CIViC curated variants (6)

Named clinical variants curated in CIViC for this gene (the catalogue beneath the predictive evidence above):

R367Q (missense variant), K359Q (missense variant), D407A (missense variant), R238W, S445F (gain of function variant,missense variant), Mutation.

PharmGKB: 1 entry (CPIC guideline: no)

PharmGKB clinical annotations

3 annotations by evidence level (1 strongest → 4):

Variant	Association	Level	Drugs	Phenotypes
rs11191561	Toxicity	3	didanosine	HIV infectious disease
rs11598702	Toxicity	3	didanosine	HIV infectious disease
rs11598702	Metabolism/PK	3	gemcitabine	Neoplasms

PharmGKB variants

2 variants:

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11191561	NT5C2	3	2.25	1	didanosine
rs11598702	NT5C2	3	2.25	2	didanosine;gemcitabine

PharmGKB variant annotations

Per-publication pharmacogenomic findings for this gene (significant associations).

10 published findings:

Variant	Drug(s)	Category	Finding	PMID
rs11191561	didanosine	Toxicity	Genotypes CG + GG are associated with increased risk of Hypertension, Portal when treated with didanosine in people with HIV Infections as compared to genotype CC.	PMID:23315321
rs11598702	didanosine	Toxicity	Genotypes CC + CT are associated with increased risk of Hypertension, Portal when treated with didanosine in people with HIV Infections as compared to genotype TT.	PMID:23315321
rs11598702	gemcitabine	Metabolism/PK	Genotype TT is associated with decreased clearance of gemcitabine as compared to genotypes CC + CT.	PMID:24300978
rs1163075		Metabolism/PK	Allele G is associated with increased transcription of NT5C2 as compared to allele A.	PMID:21712425
rs1163075	cytarabine	Efficacy	Allele G is associated with decreased sensitivity to cytarabine as compared to allele A.	PMID:21712425
rs11191612		Metabolism/PK	Genotype GG is associated with increased transcription of NT5C2 as compared to genotypes AA + AG.	PMID:21712425
rs11191612	cytarabine	Efficacy	Genotype GG is associated with decreased sensitivity to cytarabine as compared to genotypes AA + AG.	PMID:21712425
rs10883841	peginterferon alfa-2a	Efficacy	Genotype CT is associated with decreased likelihood of cryoglobulinemia when treated with peginterferon alfa-2a in people with as compared to genotype TT.	PMID:28453396
rs72846714	mercaptopurine	Metabolism/PK	Genotypes AA + AG are associated with decreased metabolism of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.	PMID:33124053
rs11598702	gemcitabine	Other, Metabolism/PK	Genotype TT is associated with decreased clearance of gemcitabine in people with Neoplasms as compared to genotypes CC + CT.	PMID:22838949

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Adenosine turnover

Binding affinities (BindingDB)

6 measured of 6 human assays (6 total across all organisms); most potent 6 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL3746819	KI	460000 nM
CHEMBL3746624	KI	790000 nM
CHEMBL3747390	KI	1.48e+06 nM
CHEMBL3746419	KI	1.65e+06 nM
CHEMBL3746211	KI	2e+06 nM
CHEMBL3746515	KI	2.78e+06 nM

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
bisphenol A	increases expression	2
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	2
Acrolein	affects cotreatment, increases expression, increases abundance	2
Air Pollutants	affects cotreatment, increases abundance, increases expression, decreases expression	2
Estradiol	increases expression, affects cotreatment, decreases expression	2
Ozone	affects cotreatment, increases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	affects expression, increases expression	2
Cyclosporine	decreases expression, increases expression	2
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
pyrogallol 1,3-dimethyl ether	decreases expression, affects cotreatment, affects localization	1
beta-lapachone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
nutlin 3	affects cotreatment, increases secretion	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
LDN 193189	affects cotreatment, increases expression	1
Bortezomib	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Amphotericin B	increases expression	1
Arsenic	affects methylation	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	increases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3750425	Binding	Inhibition of recombinant N-terminal truncated human cytosolic 5’-nucleotidase-2 assessed as inhibition of inosine 5’-monophosphate hydrolysis at 1 mM by rapid green malachite assay	Identification of Noncompetitive Inhibitors of Cytosolic 5’-Nucleotidase II Using a Fragment-Based Approach. — *J Med Chem*

Cellosaurus cell lines

2 cell lines: 2 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A5BU	HKiG2	Transformed cell line	Female
CVCL_A5BV	Hki-8	Transformed cell line	Female

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 266 trials:

NCT	Phase	Status	Title
NCT04586348	Phase 4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	Phase 4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT07542548	Phase 4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT07803276	Phase 4	RECRUITING	Comparison Between Palpatory and Ultrasound-guided Methods for Botulinum Toxin Administration in Spastic Paraplegia
NCT02559102	Phase 3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	Phase 3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	Phase 3	RECRUITING	Reducing Missed Appointments
NCT07377032	Phase 3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	Phase 2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	Phase 2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	Phase 2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT03961906	Phase 2	COMPLETED	Physiotherapy in Hereditary Spastic Paraplegia
NCT04768166	Phase 2	COMPLETED	Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
NCT00503191	Phase 1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	Phase 1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	Phase 1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT06117020	Phase 1	COMPLETED	Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals
NCT01783041	Phase 2/3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	Phase 2/3	COMPLETED	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	Early Phase 1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	COMPLETED	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice
NCT03381027	Not specified	COMPLETED	BABY SMART (Study of Massage Therapy, Sleep And neurodevelopMenT)
NCT03388294	Not specified	COMPLETED	Evaluation of a Novel Intervention for Infants At Risk for Neurodevelopmental Disorders
NCT03410810	Not specified	UNKNOWN	Childhood Outcomes of Preterm Brain Abnormalities
NCT03492060	Not specified	RECRUITING	Longitudinal Study of Neurogenetic Disorders
NCT03577756	Not specified	COMPLETED	Neurodevelopmental Assessment of Infants With Cystic Fibrosis
NCT03654248	Not specified	COMPLETED	Let’s Get Organized in Adult Psychiatric/habilitation Care
NCT03659279	Not specified	COMPLETED	Let’s Get Organized Feasibility Study
NCT03722615	Not specified	COMPLETED	Epidemiology of Congenital Cytomegalovirus in a High HIV Prevalence Setting, South Africa
NCT03770832	Not specified	ACTIVE_NOT_RECRUITING	Wearable Sensors and Video Recordings to Monitor Motor Development
NCT03830879	Not specified	RECRUITING	Shenzhen Birth Cohort Study
NCT03835689	Not specified	COMPLETED	Strongest FamiliesTM Neurodevelopmental
NCT03882788	Not specified	COMPLETED	The Effect of Anesthesia on Neurodevelopmental Outcome (NDO)
NCT03922087	Not specified	COMPLETED	No-worry Baby Project
NCT03977259	Not specified	ACTIVE_NOT_RECRUITING	Targeting Human Milk Fortification to Improve Preterm Infant Growth and Brain Development
NCT04043572	Not specified	UNKNOWN	The Biomarkers of Neurological Disease in Utero Study

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for NT5C2 across ~30M SureChEMBL compounds — explore on Sugi Predict.